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Details on Person Defective STRA6 does not transport atROL
| Class:Id | FailedReaction:2453818 |
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| _displayName | Defective STRA6 does not transport atROL |
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| _doRelease | TRUE |
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| _timestamp | 2018-11-12 15:04:15 |
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| authored | [InstanceEdit:2453822] Jassal, Bijay, 2012-08-17 |
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| compartment | [Compartment:876] plasma membrane |
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| created | [InstanceEdit:2453822] Jassal, Bijay, 2012-08-17 |
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| disease | [Disease:2453812] microphthalmia |
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| edited | [InstanceEdit:2453822] Jassal, Bijay, 2012-08-17 |
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| entityFunctionalStatus | [EntityFunctionalStatus:2453862] loss_of_function of TTR:RBP4:atROL:STRA6 mutants [plasma membrane] |
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| input | [Complex:9628705] TTR:RBP4:atROL:STRA6 mutants [plasma membrane] [Homo sapiens] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:2453872] Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia
[LiteratureReference:2453832] Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
[LiteratureReference:2453839] Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration |
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| modified | [InstanceEdit:2470272] Jassal, Bijay, 2012-09-18
[InstanceEdit:2473461] Jassal, Bijay, 2012-09-24
[InstanceEdit:2482237] Jassal, B, 2012-09-25
[InstanceEdit:3006583] Jassal, Bijay, 2013-01-31
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9036088] Jassal, Bijay, 2018-01-30
[InstanceEdit:9628706] Jassal, Bijay, 2018-11-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective STRA6 does not transport atROL |
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| normalReaction |
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| releaseDate | 2013-03-12 |
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| reviewed | [InstanceEdit:3006584] Blaner, William S, 2013-01-31 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:3200517] R-HSA-2453818.4 |
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| summation | [Summation:2453831] Defects in STRA6 cause microphthalmia syndromic type 9 (MCOP... |
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| (hasEvent) | [Pathway:9918449] Defective visual phototransduction due to STRA6 loss of function [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778943] Update Tracker - [FailedReaction:2453818] Defective STRA6 does not transport atROL - v67:[add_removeInput]
[_UpdateTracker:9779729] Update Tracker - [FailedReaction:2453818] Defective STRA6 does not transport atROL - v64:[add_removeInput] |
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